Q96: Turner syndrome

Turner syndrome is a chromosomal condition that exclusively affects females, occurring when one of the two X chromosomes normally present in females is missing or incomplete. This syndrome is not inherited, but it is a random event during the formation of reproductive cells. Females with Turner syndrome exhibit a wide range of symptoms and some physical features, including short stature, delayed puberty, infertility, heart defects, and certain learning disabilities. While the symptoms may vary, short stature and infertility are characteristics that are generally seen in all individuals affected with Turner syndrome. The condition often progresses slowly and the severity can differ by individual. The earlier it is diagnosed and managed, including with growth hormone therapy and estrogen replacement therapy during appropriate developmental stages, the better the outcome. Regular check-ups and appropriate health interventions help manage the associated health problems. It's important to note that Turner syndrome affects multiple body systems, but with appropriate medical care, individuals with Turner syndrome can lead healthy lives.